The importance of serum pyruvate kinase in neuromuscular diseases and carrier states

We have assessed the sensitivity and specificity of tests to detect carriers of Duchenne muscular dystrophy by use of three serum enzymes (creatine kinase, pyruvate kinase, and aldolase) and discriminant analysis in 21 obligate heterozygotes and 28 normal controls. We found no significant age effects on enzyme levels. Each enzyme level considered separately was significantly higher in heterozygotes. Use of logs improved discrimination, and log CK was sufficient by itself as a discriminant (that is, addition of other enzymes did not significantly improve discrimination). We present procedures to generate posteriori probabilities for genetic counselling that incorporate prior probabilities and enzyme levels. Our results show both improved sensitivity (90%) and specificity (86%).

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Improved detection of Duchenne muscular dystrophy heterozygotes using discriminant analysis of creatine kinase levels

Muir

Knoke

Martin

et al. 1983

Am. J. Med. Genet.

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Genetic counseling in duchenne muscular dystrophy

Bradley¹,

Kelemen²

1979

Muscle and Nerve

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Duchenne muscular dystrophy (DMD) is an X-linked recessive trait. Only niales are affected, but inheritance is through the female line. A small percentage of female carriers have some clinical manifestations of the disease.""" DMD is a severe, crippling, lethal disease, which imposes a major social and psychological burden 011 the affected individual and his family. Genetic counseling plays a major role in DMD; its aim should be to avoid the birth of affected males, while allowing the birth of normal individuals. Two papers in the current issue of Muscle 8c Nerve, one from Toront.04" (pp 329-339) and the other from Cincinnati46 (pp 390-393) add important information on the use of creatine kinase (CK) and pyruvate kinase (PK) in genetic counseling in DMD.

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Clinical investigation in Duchenne Dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection

Griggs

Mendell

et al. 1985

Muscle and Nerve

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We have determined the value of creatine and pyruvate kinase (CK and PK) in carrier detection by evaluating 811 females in 73 families participating in the Collaborative Investigation of Duchenne Dystrophy. Thirty-nine obligate carriers, 244 normal controls (paternal females), as well as 76 possible carriers and 351 carrier suspects had three CK and PK specimens analyzed at a central laboratory. The CK and PK values varied with age in normals: both fell with age early in life, and CK rose after the fifth decade. Discriminant analysis indicated that the combination of mean CK and PK corrected for age yielded the best data for calculation of carrier probability. Using the best model, only 45% of obligate carriers could be identified at a false-positive rate of 2.5%. Daughters of obligate carriers have a disproportionate decline in CK and PK with age as compared to noncarrier females, suggesting that the rate of carrier detection will be higher in the first two decades. Our low rate of carrier detection, as compared to other studies, may reflect both the age of our obligate carrier population and the use of a control group that is more representative of the carrier population.

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The importance of serum pyruvate kinase in neuromuscular diseases and carrier states

Cited by 10 publications

References 9 publications

Improved detection of Duchenne muscular dystrophy heterozygotes using discriminant analysis of creatine kinase levels

Improved detection of Duchenne muscular dystrophy heterozygotes using discriminant analysis of creatine kinase levels

Genetic counseling in duchenne muscular dystrophy

Clinical investigation in Duchenne Dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection

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